rs74315476

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs74315476(C;T)

Make rs74315476(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625675

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315476
dbSNP (classic)	rs74315476
ClinGen	rs74315476
ebi	rs74315476
HLI	rs74315476
Exac	rs74315476
Gnomad	rs74315476
Varsome	rs74315476
LitVar	rs74315476
Map	rs74315476
PheGenI	rs74315476
Biobank	rs74315476
1000 genomes	rs74315476
hgdp	rs74315476
ensembl	rs74315476
geneview	rs74315476
scholar	rs74315476
google	rs74315476
pharmgkb	rs74315476
gwascentral	rs74315476
openSNP	rs74315476
23andMe	rs74315476
SNPshot	rs74315476
SNPdbe	rs74315476
MSV3d	rs74315476
GWAS Ctlg	rs74315476

Max Magnitude

0

OMIM	607574
Desc
Variant	0033
Related	also

ClinVar
Risk	rs74315476(T;T)
Alt	rs74315476(T;T)
Reference	Rs74315476(C;C)
Significance	Other
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064103G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003227.3, RCV000078933.4,